Results 61 to 70 of about 24,774 (202)

Surgical and medical treatment of ocular disease in a dog with Ehlers–Danlos syndrome

Clinical Case Reports, 2017
Key Clinical Message Correctional surgery was performed on a 3‐year‐old intact male shih tzu presenting with Ehlers–Danlos syndrome, ocular disease, and skin fold dermatitis.
Søren N. Rasch
doaj   +1 more source

Spontaneous compartment syndrome and endovascular repair of tibioperoneal trunk pseudoaneurysm in Ehlers-Danlos syndrome

Journal of Vascular Surgery Cases and Innovative Techniques, 2021
Vascular Ehlers-Danlos syndrome is caused by mutations in the COL3A1 (collagen type III alpha-1) gene, resulting in loss of integrity of arteries and hollow organs. Patients are predisposed to dissection, aneurysm, and organ rupture.
Krystina N. Choinski, MD, Nicole Ilonzo, MD, Rami O. Tadros, MD, Jeffrey W. Olin, DO, John Phair, MD   +4 more
doaj   +1 more source

Ehlers–Danlos syndrome, hypermobility type: A characterization of the patients' lived experience [PDF]

, 2013
Hypermobility type Ehlers–Danlos syndrome (EDS‐HT) is an inherited connective tissue disorder clinically diagnosed by the presence of significant joint hypermobility and associated skin manifestations.
Clauw, Daniel J., Murray, Brittney, Petty, Elizabeth M., Uhlmann, Wendy R., Yashar, Beverly M.   +4 more
core   +1 more source

Which Patients With Dysfunctional Voiding Respond Well to Sacral Neuromodulation? ICI‐RS 2025

Neurourology and Urodynamics, EarlyView.
ABSTRACT Aims Dysfunctional voiding (DV) is characterised by fluctuating or intermittent urinary flow during voiding in neurologically normal individuals. Given the different definitions used and heterogeneous pathophysiologies, outcomes following sacral neuromodulation/sacral nerve stimulation (SNM/SNS) are variably reported.
Jalesh N. Panicker, Chris Harding, Hashim Hashim, Claire Hentzen, Nikita Bhatt, Arjun Nambiar, Brigitte Schurch, Mathijs de Rijk, Stefania Musco   +8 more
wiley   +1 more source

Suspected Mitochondrial Dysfunction and Complex Pathophysiology in Fatal Hypermobile Ehlers–Danlos Syndrome: Insights from a Case Report and Post-Mortem Findings

Biomedicines
Background/Objectives: Hypermobile Ehlers–Danlos Syndrome (hEDS) is a complex connective tissue disorder with multi-systemic manifestations that significantly impact quality of life.
Arash Shirvani, Purusha Shirvani, Ugochukwu Jonah, Brian E. Moore, Michael F. Holick   +4 more
doaj   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

The prevalence of hypermobile Ehlers–Danlos syndrome at a gender-affirming primary care clinic

SAGE Open Medicine
Objective: This study utilized a sample of trangender, nonbinary, and gender-diverse (TGD) patients to build on emerging literature that suggests that hypermobile Ehlers–Danlos syndrome may be overrepresented in TGD populations.
Theo Stein, Shannon Collins, Joshua St. Louis   +2 more
doaj   +1 more source

Ehlers-Danlos syndrome with infective endocarditis: A case report with literature review

IDCases, 2019
We report a patient with Ehlers-Danlos syndrome and mitral valve infective endocarditis. The case was complicated due to multiorgan involvement and initially diagnosed as hand-foot-and-mouth disease.
Yang Jiao, Mark S. Rasnake, Michael T. McCormack, J. Francis Turner   +3 more
doaj   +1 more source

The Tragedy Zone: Ableism in Entertainment [PDF]

, 2018
Ableism, or discrimination towards individuals with disabilities, is pervasive in our society. The entertainment world and the media are largely responsible for shaping the way the general public views minority groups.
Sumner, Linnea
core   +1 more source

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source